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Innovative 2D and 3D platforms for genotype/phenotype correlation and preclinical drug studies in neuromuscular and brain diseases
Funding: HORIZON
The present research activity is focused on establishing and implementing innovative experimental
platforms to advance preclinical pharmacological research for neuromuscular, and neurologic disorders.
By developing new in vitro 2D/3D platforms and using validated animal models, our work aims to provide
robust tools for drug discovery and repurposing.
Key research activities included:
a) Set up and characterization of new human patient-derived cell models for studying Duchenne
muscular dystrophy (DMD): electrophysiological and biochemical studies of different DMD mutations
for genotype-phenotype correlations and implementation of an in vitro 3D muscle organoid for
disease modelling and drug screening;
b) Genotype-phenotype correlation and drug repurposing studies based on virtual screening and
automated patch clamp in neuromuscular and neurologic disorders involving sodium and potassium
channels;
c) Characterization of 2D models of microglia to study the cytokine involvement in multiple sclerosis.
d) Repurposing safinamide as a potential therapy for non-dystrophic myotonias, assessing its effects on
muscle excitability through in vivo tests in the ADR mouse model of congenital myotonia.
Possibili applicazioni: The experimental platforms developed so far offer a wide range of potential applications in preclinical
pharmacology. They can be used for drug discovery and repurposing, allowing systematic testing of new
compounds or existing drugs for neuromuscular, neurodevelopmental, and neurodegenerative disorders.
Human patient-derived 2D cell models and 3D organoids enable detailed genotype-phenotype correlation
studies, supporting the development of personalized therapeutic strategies. Electrophysiological profiling of
ion channels and functional characterization of cellular pathways provide insights into disease mechanisms
and identify potential drug targets. Additionally, validated animal models allow preclinical evaluation of
therapeutic candidates, assessing efficacy and safety before clinical translation. Together, these platforms
create versatile and robust tools to accelerate the development of innovative treatments for conditions such
as DMD, non-dystrophic myotonias, KCNA2-related disorders, and multiple sclerosis.
TRL: 3
Cluster applicativi:
Life Sciences, Lifescience, Pharmaceutical
Life Sciences, Lifescience, Pharmaceutical
Settori Scientifico Disciplinari
Spoke 3 : Neural Homeostasis and Brain-Environment Interaction
